DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs587776667 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587776667

PTEN

0.700

CausalMutation

CLINVAR

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

28526761

2017

dbSNP:

rs587776667

PTEN

0.700

CausalMutation

CLINVAR

KLLN epigenotype-phenotype associations in Cowden syndrome.

25669429

2015

dbSNP:

rs587776667

PTEN

0.700

CausalMutation

CLINVAR

Cognitive characteristics of PTEN hamartoma tumor syndromes.

23470840

2013

dbSNP:

rs587776667

PTEN

0.700

CausalMutation

CLINVAR

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

21194675

2011

dbSNP:

rs587776667

PTEN

0.700

CausalMutation

CLINVAR

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

9259288

1997